A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6772997



Internal ID10000587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128113196..128113687hg38UCSC Ensembl
Outerchr12:128597741..128598232hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746627, esv2746626
Supporting Variants
SamplesSSM008
Known GenesLOC100996679
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6772997
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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